Incidental Mutation 'R9077:Ksr1'
ID |
689858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ksr1
|
Ensembl Gene |
ENSMUSG00000018334 |
Gene Name |
kinase suppressor of ras 1 |
Synonyms |
D11Bhm183e, B-KSR1, D11Bhm184e |
MMRRC Submission |
068898-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R9077 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78904266-79037233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78927552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 371
(T371A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
AlphaFold |
Q61097 |
PDB Structure |
Solution structure of the cysteine-rich C1 domain of Kinase Suppressor of Ras [SOLUTION NMR]
Solution Structure of the Cysteine-Rich C1 Domain of Kinase Suppressor of Ras [SOLUTION NMR]
Solution NMR Structure of the KSR1 CA1-CA1a domain [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018478
AA Change: T371A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000018478 Gene: ENSMUSG00000018334 AA Change: T371A
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
31 |
N/A |
INTRINSIC |
Pfam:KSR1-SAM
|
39 |
166 |
2.7e-41 |
PFAM |
low complexity region
|
271 |
278 |
N/A |
INTRINSIC |
C1
|
334 |
377 |
5.48e-8 |
SMART |
low complexity region
|
429 |
464 |
N/A |
INTRINSIC |
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
563 |
827 |
2.3e-48 |
PFAM |
Pfam:Pkinase
|
563 |
828 |
1.5e-38 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108264
AA Change: T371A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103899 Gene: ENSMUSG00000018334 AA Change: T371A
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
31 |
N/A |
INTRINSIC |
Pfam:KSR1-SAM
|
39 |
166 |
8.9e-51 |
PFAM |
low complexity region
|
271 |
278 |
N/A |
INTRINSIC |
C1
|
334 |
377 |
5.48e-8 |
SMART |
low complexity region
|
429 |
464 |
N/A |
INTRINSIC |
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
563 |
637 |
1e-6 |
PFAM |
Pfam:Pkinase_Tyr
|
563 |
637 |
2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208969
AA Change: T296A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226282
AA Change: T289A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
Validation Efficiency |
100% (48/48) |
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
Alkbh3 |
A |
G |
2: 93,811,925 (GRCm39) |
V235A |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,706,721 (GRCm39) |
I982V |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,500,899 (GRCm39) |
D1117G |
possibly damaging |
Het |
Arhgap31 |
G |
T |
16: 38,422,730 (GRCm39) |
A1112D |
probably damaging |
Het |
Arhgef4 |
T |
C |
1: 34,760,824 (GRCm39) |
C27R |
unknown |
Het |
Bzw1 |
T |
A |
1: 58,438,190 (GRCm39) |
M90K |
probably benign |
Het |
Cdk17 |
T |
C |
10: 93,068,277 (GRCm39) |
Y345H |
probably damaging |
Het |
Cip2a |
A |
G |
16: 48,827,511 (GRCm39) |
I459V |
probably benign |
Het |
Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
Ctsw |
T |
C |
19: 5,516,431 (GRCm39) |
D173G |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,121,029 (GRCm39) |
C1488* |
probably null |
Het |
Dnah7a |
T |
C |
1: 53,741,218 (GRCm39) |
K13E |
unknown |
Het |
Eif3f |
A |
G |
7: 108,539,425 (GRCm39) |
M232V |
probably benign |
Het |
Gk5 |
C |
A |
9: 96,001,634 (GRCm39) |
T44K |
probably benign |
Het |
Glrb |
A |
G |
3: 80,763,217 (GRCm39) |
F260S |
probably damaging |
Het |
Glyctk |
C |
A |
9: 106,032,522 (GRCm39) |
R497L |
probably benign |
Het |
Gm10153 |
G |
T |
7: 141,743,383 (GRCm39) |
C248* |
probably null |
Het |
Hand2 |
A |
G |
8: 57,776,836 (GRCm39) |
K199E |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,428,247 (GRCm39) |
C795S |
probably benign |
Het |
Il31ra |
T |
C |
13: 112,670,361 (GRCm39) |
I342M |
probably benign |
Het |
Itm2b |
G |
T |
14: 73,605,865 (GRCm39) |
D40E |
probably benign |
Het |
Lctl |
C |
A |
9: 64,039,241 (GRCm39) |
|
probably benign |
Het |
Lpin1 |
G |
A |
12: 16,591,747 (GRCm39) |
P827S |
|
Het |
Lyst |
T |
C |
13: 13,857,693 (GRCm39) |
I2494T |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,226,760 (GRCm39) |
N510S |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,469,974 (GRCm39) |
D1308G |
probably damaging |
Het |
Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Omt2b |
T |
C |
9: 78,235,548 (GRCm39) |
|
probably null |
Het |
Or2j6 |
G |
A |
7: 139,980,809 (GRCm39) |
P50L |
probably benign |
Het |
Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
Or56b1 |
A |
G |
7: 104,285,618 (GRCm39) |
T246A |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,148,856 (GRCm39) |
Y490C |
probably damaging |
Het |
Pard6g |
A |
G |
18: 80,160,772 (GRCm39) |
E295G |
probably damaging |
Het |
Pcdhb8 |
T |
C |
18: 37,489,414 (GRCm39) |
V23A |
probably damaging |
Het |
Phactr3 |
A |
T |
2: 177,974,758 (GRCm39) |
|
probably benign |
Het |
Pip |
G |
A |
6: 41,828,388 (GRCm39) |
S74N |
probably damaging |
Het |
Plau |
G |
A |
14: 20,889,949 (GRCm39) |
E265K |
probably benign |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Rcor3 |
C |
T |
1: 191,807,865 (GRCm39) |
D230N |
probably damaging |
Het |
Siglec15 |
A |
G |
18: 78,091,983 (GRCm39) |
Y73H |
possibly damaging |
Het |
Spag16 |
T |
A |
1: 70,532,930 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
T |
1: 174,045,170 (GRCm39) |
D1506Y |
probably damaging |
Het |
Tacr3 |
A |
T |
3: 134,635,711 (GRCm39) |
Y305F |
probably benign |
Het |
Tcstv7a |
T |
C |
13: 120,289,885 (GRCm39) |
M104V |
probably benign |
Het |
Vmn1r83 |
G |
A |
7: 12,055,571 (GRCm39) |
T162M |
probably damaging |
Het |
Vmn2r116 |
G |
T |
17: 23,604,956 (GRCm39) |
D90Y |
probably benign |
Het |
Wdr76 |
A |
G |
2: 121,364,608 (GRCm39) |
N304S |
probably benign |
Het |
Wee1 |
G |
A |
7: 109,725,963 (GRCm39) |
V358I |
probably damaging |
Het |
Zan |
G |
A |
5: 137,401,468 (GRCm39) |
P4084S |
unknown |
Het |
|
Other mutations in Ksr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00834:Ksr1
|
APN |
11 |
78,918,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01304:Ksr1
|
APN |
11 |
78,918,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01482:Ksr1
|
APN |
11 |
78,927,409 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01928:Ksr1
|
APN |
11 |
78,935,665 (GRCm39) |
splice site |
probably null |
|
IGL02025:Ksr1
|
APN |
11 |
78,912,276 (GRCm39) |
splice site |
probably null |
|
IGL02176:Ksr1
|
APN |
11 |
78,911,617 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02374:Ksr1
|
APN |
11 |
78,919,317 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02511:Ksr1
|
APN |
11 |
78,936,046 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02563:Ksr1
|
APN |
11 |
78,935,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02662:Ksr1
|
APN |
11 |
78,927,551 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02823:Ksr1
|
APN |
11 |
78,912,229 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02879:Ksr1
|
APN |
11 |
78,965,270 (GRCm39) |
missense |
probably damaging |
1.00 |
julius
|
UTSW |
11 |
78,927,320 (GRCm39) |
critical splice donor site |
probably null |
|
R0096:Ksr1
|
UTSW |
11 |
78,929,073 (GRCm39) |
splice site |
probably benign |
|
R0096:Ksr1
|
UTSW |
11 |
78,929,073 (GRCm39) |
splice site |
probably benign |
|
R0364:Ksr1
|
UTSW |
11 |
78,919,851 (GRCm39) |
splice site |
probably benign |
|
R0479:Ksr1
|
UTSW |
11 |
78,916,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R0590:Ksr1
|
UTSW |
11 |
78,935,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R0711:Ksr1
|
UTSW |
11 |
78,929,073 (GRCm39) |
splice site |
probably benign |
|
R0743:Ksr1
|
UTSW |
11 |
78,912,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0884:Ksr1
|
UTSW |
11 |
78,912,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1272:Ksr1
|
UTSW |
11 |
79,036,904 (GRCm39) |
nonsense |
probably null |
|
R1739:Ksr1
|
UTSW |
11 |
78,938,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Ksr1
|
UTSW |
11 |
78,927,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Ksr1
|
UTSW |
11 |
78,911,204 (GRCm39) |
missense |
probably null |
|
R1886:Ksr1
|
UTSW |
11 |
78,911,204 (GRCm39) |
missense |
probably null |
|
R2118:Ksr1
|
UTSW |
11 |
78,936,019 (GRCm39) |
missense |
probably benign |
0.10 |
R2127:Ksr1
|
UTSW |
11 |
78,924,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R2939:Ksr1
|
UTSW |
11 |
78,936,007 (GRCm39) |
splice site |
probably null |
|
R4090:Ksr1
|
UTSW |
11 |
78,918,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4675:Ksr1
|
UTSW |
11 |
78,965,186 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4854:Ksr1
|
UTSW |
11 |
78,918,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R5267:Ksr1
|
UTSW |
11 |
78,911,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Ksr1
|
UTSW |
11 |
78,929,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Ksr1
|
UTSW |
11 |
78,950,545 (GRCm39) |
missense |
probably damaging |
0.96 |
R6199:Ksr1
|
UTSW |
11 |
78,911,267 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6346:Ksr1
|
UTSW |
11 |
78,910,490 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6377:Ksr1
|
UTSW |
11 |
78,927,320 (GRCm39) |
critical splice donor site |
probably null |
|
R6885:Ksr1
|
UTSW |
11 |
78,938,121 (GRCm39) |
critical splice donor site |
probably null |
|
R7016:Ksr1
|
UTSW |
11 |
78,918,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R8803:Ksr1
|
UTSW |
11 |
79,036,882 (GRCm39) |
missense |
probably benign |
0.02 |
R8984:Ksr1
|
UTSW |
11 |
78,931,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R8991:Ksr1
|
UTSW |
11 |
78,936,014 (GRCm39) |
missense |
probably benign |
0.01 |
R9056:Ksr1
|
UTSW |
11 |
78,918,465 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9139:Ksr1
|
UTSW |
11 |
78,911,572 (GRCm39) |
missense |
probably benign |
0.00 |
R9308:Ksr1
|
UTSW |
11 |
78,918,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R9447:Ksr1
|
UTSW |
11 |
78,909,159 (GRCm39) |
missense |
unknown |
|
R9455:Ksr1
|
UTSW |
11 |
78,911,602 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9511:Ksr1
|
UTSW |
11 |
78,924,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
U24488:Ksr1
|
UTSW |
11 |
78,938,267 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ksr1
|
UTSW |
11 |
78,935,705 (GRCm39) |
splice site |
probably null |
|
Z1176:Ksr1
|
UTSW |
11 |
78,918,426 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Ksr1
|
UTSW |
11 |
78,911,577 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAATGGGGCTCTGCTGCTC -3'
(R):5'- TGCTCAGATGGAGGAAGTTCC -3'
Sequencing Primer
(F):5'- TGCTGCTCTGTCCACTGGG -3'
(R):5'- AGTTCCAGGGGATCTGACATC -3'
|
Posted On |
2021-11-19 |